ClinVar Miner

List of variants reported as uncertain significance for Dilated cardiomyopathy 1G by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) rs373062007 0.00007
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln) rs376287951 0.00003
NM_001267550.2(TTN):c.31349-4A>T rs1029227575 0.00002
NM_001267550.2(TTN):c.32471-6C>T rs763361422 0.00002
NM_001267550.2(TTN):c.48312+3G>T rs368650224 0.00002
NM_001267550.2(TTN):c.92152+7T>G rs574211300 0.00002
NM_001267550.2(TTN):c.14304C>T (p.Gly4768=) rs1287135223 0.00001
NM_001267550.2(TTN):c.45895G>A (p.Glu15299Lys) rs397517582 0.00001
NM_001267550.2(TTN):c.7946A>G (p.Lys2649Arg) rs745433704 0.00001
NM_001267550.2(TTN):c.99289T>C (p.Ser33097Pro) rs1205532462 0.00001
NM_001267550.2(TTN):c.101665_101668del (p.Leu33888_Val33889insTer) rs2154136319
NM_001267550.2(TTN):c.31270G>T (p.Val10424Phe) rs1352290576
NM_001267550.2(TTN):c.36365-1G>A rs577672565
NM_001267550.2(TTN):c.37370-1G>A
NM_001267550.2(TTN):c.40633+5G>T rs2061194221
NM_001267550.2(TTN):c.45932T>C (p.Ile15311Thr)
NM_001267550.2(TTN):c.46909A>C (p.Ile15637Leu)
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.70946ACA[1] (p.Asn23650del) rs794729336
NM_001267550.2(TTN):c.76802C>A (p.Thr25601Lys)
NM_001267550.2(TTN):c.77365dup (p.Ile25789fs)
NM_001267550.2(TTN):c.86727dup (p.Gln28910fs)
NM_001267550.2(TTN):c.89144dup (p.Gln29716fs) rs1700323685
NM_001267550.2(TTN):c.91544_91554del (p.Ile30515fs) rs1559192617

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